Undiagnosed metabolic disordersGene: NDUFA12
Comment on phenotypes: Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Created: 27 Sep 2019, 1:52 p.m. | Last Modified: 27 Sep 2019, 1:52 p.m.
Panel Version: 1.336
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with a single homozygous terminating variant, together with functional studies.
Created: 27 Sep 2019, 1:49 p.m. | Last Modified: 27 Sep 2019, 3:25 p.m.
Panel Version: 1.342
PMID:21617257 only one published case in the literature to date (1 affected), homozygous truncating variant c.178C>T, p.R60*. Leigh syndrome is clinically heterogeneous. Variants of NDUFA12 cause affect mitochondrial respiratory chain complex I. On Radboud INTELLECTUAL DISABILITY MENDELIOME/MCA MITOCHONDRIAL DISORDERS panel
Created: 23 Feb 2017, 5:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Leigh syndrome due to mitochondrial complex 1 deficiency,256000
Publications for gene: NDUFA12 were set to 27604308
Phenotypes for gene: NDUFA12 were changed from Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Leigh syndrome due to mitochondrial complex 1 deficiency,256000 to ?Mitochondrial complex I deficiency, nuclear type 23 618244
Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
NDUFA12 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Red NDUFA12 was added to Undiagnosed metabolic disorderspanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
NDUFA12 was created by sleigh
NDUFA12 was added to Undiagnosed metabolic disorderspanel. Sources: Literature